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SKI SKI proto-oncogene [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_003036 Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005244775 PREDICTED: Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005244776 PREDICTED: Homo sapiens v-ski avian sarcoma viral oncogene homolog (SKI), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

Related Services

Gene Symbol SKI
Entrez Gene ID 6497
Full Name SKI proto-oncogene
Synonyms SGS, SKV
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1p36.33

Summary This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009].
Disorder

MIM: 164780

mRNA Protein Product Sequence Price Select
NM_003036, 224465161 NP_003027, 4506967 ski oncogene ORF Sequence $700.00
XM_005244775, 530360371 XP_005244832, 530360372 ski oncogene isoform X1 ORF Sequence $700.00
XM_005244776, 578799619 XP_005244833, 530360374 ski oncogene isoform X2 ORF Sequence $550.00
WikiPathways
WP366TGF-beta Receptor Signaling Pathway
WP560TGF Beta Signaling Pathway
WP47Hedgehog Signaling Pathway
Pathway Interaction Database
smad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
bmppathwayBMP receptor signaling
cmyb_pathwayC-MYB transcription factor network
BIOCYC
HUMAN_PWY66-11BMP Signalling Pathway
Reactome
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_12034Signaling by BMP
REACT_6844Signaling by TGF-beta Receptor Complex
REACT_111102Signal Transduction
REACT_116125Disease
REACT_121111Downregulation of SMAD2/3:SMAD4 transcriptional activity
REACT_121061Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
REACT_169103SMAD2/3 Phosphorylation Motif Mutants in Cancer
REACT_169192TGFBR2 MSI Frameshift Mutants in Cancer
REACT_169440TGFBR2 Kinase Domain Mutants in Cancer
REACT_169165SMAD2/3 MH2 Domain Mutants in Cancer
REACT_169107SMAD4 MH2 Domain Mutants in Cancer
REACT_169311Loss of Function of TGFBR1 in Cancer
REACT_169122Signaling by TGF-beta Receptor Complex in Cancer
REACT_169263TGFBR1 KD Mutants in Cancer
REACT_169435Loss of Function of TGFBR2 in Cancer
REACT_169219Loss of Function of SMAD4 in Cancer
REACT_169398Loss of Function of SMAD2/3 in Cancer
REACT_169445TGFBR1 LBD Mutants in Cancer
Homo sapiens (human)SKINP_003027.1
Macaca mulatta (Rhesus monkey)SKIXP_001086434.1
Canis lupus familiaris (dog)SKIXP_005620652.1
Bos taurus (cattle)SKIXP_002694226.2
Mus musculus (house mouse)SkiNP_035515.2
Rattus norvegicus (Norway rat)SkiXP_006239683.1
Gallus gallus (chicken)SKINP_001034407.1
Danio rerio (zebrafish)skiaNP_571010.2
Xenopus (Silurana) tropicalis (western clawed frog)skiXP_004916211.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterIDA
GO:0000122negative regulation of transcription from RNA polymerase II promoterIMP
GO:0000122negative regulation of transcription from RNA polymerase II promoterTAS
GO:0001843neural tube closureISS
GO:0002089lens morphogenesis in camera-type eyeISS
GO:0006351transcription, DNA-templatedISS
GO:0006351transcription, DNA-templatedTAS
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007179transforming growth factor beta receptor signaling pathwayNAS
GO:0007179transforming growth factor beta receptor signaling pathwayTAS
GO:0008283cell proliferationNAS
GO:0008285negative regulation of cell proliferationIDA
GO:0009948anterior/posterior axis specificationISS
GO:0010467gene expressionTAS
GO:0010626negative regulation of Schwann cell proliferationIGI
GO:0014902myotube differentiationIDA
GO:0021772olfactory bulb developmentISS
GO:0022011myelination in peripheral nervous systemISS
GO:0030177positive regulation of Wnt signaling pathwayNAS
GO:0030326embryonic limb morphogenesisISS
GO:0030509BMP signaling pathwayTAS
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathwayIDA
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathwayIGI
GO:0030512negative regulation of transforming growth factor beta receptor signaling pathwayIMP
GO:0030514negative regulation of BMP signaling pathwayIDA
GO:0030514negative regulation of BMP signaling pathwayIMP
GO:0031064negative regulation of histone deacetylationIEA
GO:0032926negative regulation of activin receptor signaling pathwayIDA
GO:0035019somatic stem cell maintenanceISS
GO:0042981regulation of apoptotic processIBA
GO:0042981regulation of apoptotic processISS
GO:0043010camera-type eye developmentISS
GO:0043388positive regulation of DNA bindingIDA
GO:0043585nose morphogenesisISS
GO:0045668negative regulation of osteoblast differentiationIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterISS
GO:0048147negative regulation of fibroblast proliferationISS
GO:0048593camera-type eye morphogenesisISS
GO:0048741skeletal muscle fiber developmentISS
GO:0048870cell motilityNAS
GO:0060021palate developmentISS
GO:0060041retina development in camera-type eyeISS
GO:0060325face morphogenesisISS
GO:0060349bone morphogenesisISS
GO:0060395SMAD protein signal transductionIDA
GO:0070207protein homotrimerizationIDA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005667transcription factor complexISS
GO:0005737cytoplasmIBA
GO:0005737cytoplasmISS
GO:0005813centrosomeIDA
GO:0016604nuclear bodyIDA
GO:0016605PML bodyIDA
GO:0017053transcriptional repressor complexISS
GO:0043234protein complexIDA
Function
IDNameEvidence
GO:0003682chromatin bindingIEA
GO:0003714transcription corepressor activityIDA
GO:0003714transcription corepressor activityIMP
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIDA
GO:0019901protein kinase bindingIPI
GO:0019904protein domain specific bindingIPI
GO:0031625ubiquitin protein ligase bindingIPI
GO:0046332SMAD bindingIPI
GO:0046811histone deacetylase inhibitor activityISS
GO:0070491repressing transcription factor bindingIPI
GeneCards SKI
PDB 1MR1, 1SBX
UniProt P12755
Vega OTTHUMG00000001407
MIM 164780
Ensembl ENSG00000157933
HGNC 10896
HPRD 01271

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SKI gene?

The SKI gene provides instructions for making a protein involved in a signaling pathway that transmits chemical signals from the cell surface to the nucleus. This pathway, called the transforming growth factor beta (TGF-β) pathway, allows the environment outside the cell to affect how the cell produces other proteins. It helps regulate cell growth and division (proliferation), the process by which cells mature to carry out special functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). Through this pathway, a group of proteins called the SMAD complex is turned on (activated). The activated SMAD protein complex moves to the cell nucleus and attaches (binds) to specific areas of DNA to control the activity of particular genes, which help regulate various cellular processes.

The SKI protein controls the activity of the TGF-β pathway by binding to certain SMAD proteins, which interrupts signaling through the pathway. SKI protein binding within the cell can keep the SMAD protein complex from entering the nucleus, so it is unable to activate genes. Binding of the SKI protein can also occur in the nucleus. Although the SMAD complex binds to DNA, the SKI protein attracts other proteins (corepressors) that block its ability to turn genes on.

The SKI protein is found in many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brain.

Interactant

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